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  2. Ataxia and cerebellar anomalies - narrow panel
  3. GPAA1
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Ataxia and cerebellar anomalies - narrow panel

Gene: GPAA1

Green List (high evidence)
GPAA1 (glycosylphosphatidylinositol anchor attachment 1)
EnsemblGeneIds (GRCh38): ENSG00000197858
EnsemblGeneIds (GRCh37): ENSG00000197858
OMIM: 603048, Gene2Phenotype
GPAA1 is in 9 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
OMIM
603048
Clinvar variants
Variants in GPAA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GPAA1 was added gene: GPAA1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPAA1 were set to 29100095; 24896178 Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810